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rs121908022

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908022(A;A)
Make rs121908022(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position111836179
GeneALG9
is asnp
is mentioned by
dbSNPrs121908022
dbSNP (classic)rs121908022
ClinGenrs121908022
ebirs121908022
HLIrs121908022
Exacrs121908022
Gnomadrs121908022
Varsomers121908022
LitVarrs121908022
Maprs121908022
PheGenIrs121908022
Biobankrs121908022
1000 genomesrs121908022
hgdprs121908022
ensemblrs121908022
geneviewrs121908022
scholarrs121908022
googlers121908022
pharmgkbrs121908022
gwascentralrs121908022
openSNPrs121908022
23andMers121908022
SNPshotrs121908022
SNPdbers121908022
MSV3drs121908022
GWAS Ctlgrs121908022
Max Magnitude0
OMIM606941
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908022(A;A)
Alt rs121908022(A;A)
Reference Rs121908022(G;G)
Significance Pathogenic
Disease CONGENITAL DISORDER OF GLYCOSYLATION
Variation info
Gene ALG9
CLNDBN CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il
Reversed 1
HGVS NC_000011.9:g.111706902C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003946.2,